Phenylketonuria

Phenylketonuria Phenylketonuria, otherwise known as PKU, is a rare genetic disease that is caused by a person’s body being unable to metabolize the amino acid phenylalanine. The disease can cause mental retardation because the build up of phenylalanine in the body. When phenylalanine is not broken down and turned in a different amino acid, tyrosine, it can create other enzyme routes that build up in the blood stream and body tissue. This can be extremely harmful to the body and its development. This disease is caused by missing the enzyme phenylalanine hydroxylase, this enzyme is the one that normally breaks down phenylalanine. It is rare for this enzyme to be completely absence, but this form leads to the most severe mental retardation and neurological problems. Most cases occur when this enzyme is deficient and the amount of phenylalanine is slightly higher than usual amount in the circulatory system of a person. This is called hyperphenylalaninemia.. These disorders are different than norm! al PKU. (Shuett; McKusick) PKU occurs immediately when a child is born. The child appears to be completely normal, but can have blue eyes and can have fairer skin and hair than the rest of its family members. If PKU is pku, phenylalanine, problems, child, body, protein, one, disease, diet, gene, about, mental, babies, 2001, now, enzyme, early, baby, schuett, retardation, person, high, disorders, development, april, ‘pp’, very, usual, symptoms, recessive, person’s, once, occur, mckusick, levels, level, ill, harmful, foods, every, done, dominant, chances, carriers, called, born, becoming, because, amount, age, 15